In vitro and in vivo approaches to modelling of Osteogenesis Imperfecta

In this thesis I investigated cell and mouse models for the genetically and clinically heterogeneous connective tissue disorder Osteogenesis Imperfecta (OI). OI is characterized by syndromic bone fragility and skeletal dysplasia. Currently, there are no curative therapies available for these patients. As such, it is crucial to research effective and safe therapies for OI for which both animal and in vitro OI cell models are required for the investigation of the underlying pathological mechanism. In this thesis in particular, I investigated the Mov13 mouse model for haploinsufficient OI type 1 and I generated two protocols for new cell models, namely transdifferentiated osteoblast-like cells and induced mesenchymal stem cells both of which hold promise for new OI insights.